Linked Data
ClinVar Variation Id:
7760
ClinVar RCV Id:
RCV000008201
dbSNP Id:
rs17860424
ExAC:
2:202141631 C / T
gnomAD v2:
2-202141631-C-T
gnomAD v3:
2-201276908-C-T
gnomAD v4:
2-201276908-C-T
PubMed:
PMID:12353035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201276908C>T , CM000664.2:g.201276908C>T | GRCh38 |
| NC_000002.11:g.202141631C>T , CM000664.1:g.202141631C>T | GRCh37 |
| NC_000002.10:g.201849876C>T | NCBI36 |
| NG_007497.1:g.48451C>T , LRG_34:g.48451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.742C>T | ENSP00000397528.2:p.Arg248Trp | |
| ENST00000440732.6:c.742C>T | ENSP00000396869.2:p.Arg248Trp | |
| ENST00000444430.3:c.550+4132C>T | ENSP00000394434.3:n.550+4132C>T | |
| ENST00000447616.6:c.632C>T | ENSP00000388306.2:p.Thr211Met | |
| ENST00000450491.6:c.388C>T | ENSP00000391709.2:p.Arg130Trp | |
| ENST00000696067.1:c.742C>T | ENSP00000512369.1:p.Arg248Trp | |
| ENST00000696068.1:c.632C>T | ENSP00000512370.1:p.Thr211Met | |
| ENST00000696069.1:c.697C>T | ENSP00000512371.1:p.Arg233Trp | |
| ENST00000696085.1:c.874C>T | ENSP00000512381.1:p.Arg292Trp | |
| ENST00000696087.1:c.697C>T | ENSP00000512382.1:p.Arg233Trp | |
| ENST00000673742.1:c.742C>T MANE Select | ENSP00000501268.1:p.Arg248Trp | |
| ENST00000264274.13:c.550+4132C>T | ENSP00000264274.9:n.550+4132C>T | |
| ENST00000264275.9:c.793C>T | ENSP00000264275.5:p.Arg265Trp | |
| ENST00000323492.11:c.697C>T | ENSP00000325722.7:p.Arg233Trp | |
| ENST00000339403.6:n.827C>T | ||
| ENST00000358485.8:c.919C>T | ENSP00000351273.4:p.Arg307Trp | |
| ENST00000392258.7:c.677C>T | ENSP00000376087.3:p.Thr226Met | |
| ENST00000392263.6:c.697C>T | ENSP00000376091.2:p.Arg233Trp | |
| ENST00000392266.7:c.697C>T | ENSP00000376094.4:p.Arg233Trp | |
| ENST00000424461.5:c.221C>T | ENSP00000390346.1:p.Thr74Met | |
| ENST00000432109.6:c.742C>T | ENSP00000412523.2:p.Arg248Trp | |
| ENST00000444430.2:c.139+4132C>T | ENSP00000394434.2:n.139+4132C>T | |
| ENST00000450491.5:c.388C>T | ENSP00000391709.1:p.Arg130Trp | |
| NM_001080124.1:c.697C>T | NP_001073593.1:p.Arg233Trp | |
| NM_001080125.1:c.919C>T | NP_001073594.1:p.Arg307Trp | |
| NM_001228.4:c.793C>T , LRG_34t1:c.793C>T | NP_001219.2:p.Arg265Trp | |
| NM_033355.3:c.742C>T , LRG_34t2:c.742C>T | NP_203519.1:p.Arg248Trp | |
| NM_033356.3:c.697C>T | NP_203520.1:p.Arg233Trp | |
| NM_033358.3:c.677C>T | NP_203522.1:p.Thr226Met | |
| NR_111983.1:n.1120C>T | ||
| XM_005246885.1:c.874C>T | XP_005246942.1:p.Arg292Trp | |
| XM_005246886.1:c.742C>T | XP_005246943.1:p.Arg248Trp | |
| XM_005246887.1:c.742C>T | XP_005246944.1:p.Arg248Trp | |
| XM_005246888.1:c.742C>T | XP_005246945.1:p.Arg248Trp | |
| XM_005246889.1:c.742C>T | XP_005246946.1:p.Arg248Trp | |
| XM_005246890.2:c.742C>T | XP_005246947.1:p.Arg248Trp | |
| XM_005246891.3:c.742C>T | XP_005246948.1:p.Arg248Trp | |
| XM_005246892.1:c.697C>T | XP_005246949.1:p.Arg233Trp | |
| XM_005246893.2:c.854C>T | XP_005246950.1:p.Thr285Met | |
| XM_005246894.2:c.145C>T | XP_005246951.1:p.Arg49Trp | |
| XM_005246895.2:c.809C>T | XP_005246952.1:p.Thr270Met | |
| XM_006712789.1:c.742C>T | XP_006712852.1:p.Arg248Trp | |
| XM_006712790.2:c.742C>T | XP_006712853.1:p.Arg248Trp | |
| XM_006712791.1:c.727+4132C>T | XP_006712854.1:n.727+4132C>T | |
| XM_006712793.2:c.677C>T | XP_006712856.1:p.Thr226Met | |
| XM_011511968.1:c.919C>T | XP_011510270.1:p.Arg307Trp | |
| XM_011511969.1:c.307C>T | XP_011510271.1:p.Arg103Trp | |
| XM_011511970.1:c.854C>T | XP_011510272.1:p.Thr285Met | |
| XR_923035.1:n.875C>T | ||
| XM_005246885.2:c.874C>T | XP_005246942.1:p.Arg292Trp | |
| XM_005246886.2:c.742C>T | XP_005246943.1:p.Arg248Trp | |
| XM_005246887.2:c.742C>T | XP_005246944.1:p.Arg248Trp | |
| XM_005246888.2:c.742C>T | XP_005246945.1:p.Arg248Trp | |
| XM_005246889.2:c.742C>T | XP_005246946.1:p.Arg248Trp | |
| XM_005246890.4:c.742C>T | XP_005246947.1:p.Arg248Trp | |
| XM_005246891.5:c.742C>T | XP_005246948.1:p.Arg248Trp | |
| XM_005246892.2:c.697C>T | XP_005246949.1:p.Arg233Trp | |
| XM_005246893.3:c.854C>T | XP_005246950.1:p.Thr285Met | |
| XM_005246894.4:c.145C>T | XP_005246951.1:p.Arg49Trp | |
| XM_005246895.3:c.809C>T | XP_005246952.1:p.Thr270Met | |
| XM_006712789.2:c.742C>T | XP_006712852.1:p.Arg248Trp | |
| XM_006712790.4:c.742C>T | XP_006712853.1:p.Arg248Trp | |
| XM_006712793.3:c.677C>T | XP_006712856.1:p.Thr226Met | |
| XM_011511969.2:c.307C>T | XP_011510271.1:p.Arg103Trp | |
| XR_001738971.1:n.953C>T | ||
| NM_001080124.2:c.697C>T | NP_001073593.1:p.Arg233Trp | |
| NM_001080125.2:c.919C>T | NP_001073594.1:p.Arg307Trp | |
| NM_001372051.1:c.742C>T MANE Select | NP_001358980.1:p.Arg248Trp | |
| NM_033356.4:c.697C>T | NP_203520.1:p.Arg233Trp | |
| NM_033358.4:c.677C>T | NP_203522.1:p.Thr226Met | |
| NR_111983.2:n.1116C>T | ||
| NM_001400642.1:c.874C>T | NP_001387571.1:p.Arg292Trp | |
| NM_001400645.1:c.775C>T | NP_001387574.1:p.Arg259Trp | |
| NM_001400648.1:c.742C>T | NP_001387577.1:p.Arg248Trp | |
| NM_001400651.1:c.742C>T | NP_001387580.1:p.Arg248Trp | |
| NM_001400653.1:c.742C>T | NP_001387582.1:p.Arg248Trp | |
| NM_001400654.1:c.742C>T | NP_001387583.1:p.Arg248Trp | |
| NM_001400655.1:c.742C>T | NP_001387584.1:p.Arg248Trp | |
| NM_001400656.1:c.742C>T | NP_001387585.1:p.Arg248Trp | |
| NM_001400657.1:c.742C>T | NP_001387586.1:p.Arg248Trp | |
| NM_001400658.1:c.697C>T | NP_001387587.1:p.Arg233Trp | |
| NM_001400659.1:c.697C>T | NP_001387588.1:p.Arg233Trp | |
| NM_001400660.1:c.697C>T | NP_001387589.1:p.Arg233Trp | |
| NM_001400661.1:c.697C>T | NP_001387590.1:p.Arg233Trp | |
| NM_001400662.1:c.697C>T | NP_001387591.1:p.Arg233Trp | |
| NM_001400663.1:c.697C>T | NP_001387592.1:p.Arg233Trp | |
| NM_001400664.1:c.673C>T | NP_001387593.1:p.Arg225Trp | |
| NM_001400665.1:c.727+4132C>T | NP_001387594.1:n.727+4132C>T | |
| NM_001400666.1:c.595+3966C>T | NP_001387595.1:n.595+3966C>T | |
| NM_001400667.1:c.550+4132C>T | NP_001387596.1:n.550+4132C>T | |
| NM_001400668.1:c.550+4132C>T | NP_001387597.1:n.550+4132C>T | |
| NM_001400669.1:c.433C>T | NP_001387598.1:p.Arg145Trp | |
| NM_001400670.1:c.742C>T | NP_001387599.1:p.Arg248Trp | |
| NM_001400671.1:c.145C>T | NP_001387600.1:p.Arg49Trp | |
| NM_001400672.1:c.145C>T | NP_001387601.1:p.Arg49Trp | |
| NM_001400673.1:c.145C>T | NP_001387602.1:p.Arg49Trp | |
| NM_001400674.1:c.127C>T | NP_001387603.1:p.Arg43Trp | |
| NM_001400675.1:c.100C>T | NP_001387604.1:p.Arg34Trp | |
| NM_001400676.1:c.100C>T | NP_001387605.1:p.Arg34Trp | |
| NM_001400677.1:c.100C>T | NP_001387606.1:p.Arg34Trp | |
| NM_001400678.1:c.100C>T | NP_001387607.1:p.Arg34Trp | |
| NM_001400679.1:c.677C>T | NP_001387608.1:p.Thr226Met | |
| NM_001400680.1:c.127C>T | NP_001387609.1:p.Arg43Trp | |
| NM_001400750.1:c.145C>T | NP_001387679.1:p.Arg49Trp | |
| NM_001400751.1:c.100C>T | NP_001387680.1:p.Arg34Trp | |
| NR_174564.1:n.695C>T | ||
| NR_174565.1:n.825C>T | ||
| NR_174581.1:n.851C>T | ||
| NR_174583.1:n.957C>T | ||
| NR_174584.1:n.1006C>T | ||
| NR_174585.1:n.888C>T | ||
| NR_174586.1:n.862C>T | ||
| NR_174588.1:n.1025C>T | ||
| NR_174589.1:n.820C>T | ||
| NR_174590.1:n.912C>T | ||
| NR_174591.1:n.843C>T | ||
| NR_174592.1:n.1188C>T | ||
| NR_174593.1:n.986C>T | ||
| NR_174594.1:n.1029C>T | ||
| NR_174595.1:n.944C>T | ||
| NR_174596.1:n.781C>T | ||
| NR_174598.1:n.1139C>T | ||
| NR_174599.1:n.719+1955C>T | ||
| NR_174600.1:n.1051C>T | ||
| NR_174601.1:n.976C>T | ||
| NR_174602.1:n.846C>T |